Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys]

Hemoglobin. 2010 Jan;34(2):123-6. doi: 10.3109/03630261003679854.


We report two new point mutations of the alpha1-globin gene found in a Greek and a Burmese patient, both living in Western Australia. The patients were initially selected for their microcytic hypochromic parameters as belonging to a group suspected for uncommon (deletion) defects. Gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA) technologies were applied, and in those cases not showing deletions, direct sequencing was performed. We have found 1) HBA1:c.86C>T, Hb Nedlands [alpha28(B9)Ala-->Val] which, based on the red cell indices and phenotype prediction scores, is presumed to be clinically silent, and 2) HBA1:c.98T>A, Hb Queens Park [alpha32(B13)Met-->Lys] which seems to be associated with a mild alpha-thalassemia (alpha-thal) phenotype. The phenotype/genotype correlation is briefly described.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • Anemia, Hypochromic / genetics
  • Australia
  • Chromatography, High Pressure Liquid
  • Cohort Studies
  • Greece / ethnology
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / isolation & purification
  • Humans
  • Male
  • Mutation, Missense*
  • Myanmar / ethnology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Western Australia
  • alpha-Globins / genetics*
  • alpha-Thalassemia / genetics*


  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin Nedlands
  • hemoglobin Queens Park